QuyenAnhDE/medical huggingface dataset:
NUT midline carcinoma
Definition: A carcinoma that is characterized by a BRD4-NUT translocation involving the rearrangement of the bromodomain-containing protein 4 (BRD4) and the gene encoding nuclear protein of the testis (NUT) at 15q14, BRD4-NUT t(15;19)(q14;q13.1) and arises from midline epithelial structures, most commonly the head, neck, and mediastinum. [PMID:21221870, PMID:25685583, PMID:26378054, PMID:26402248, url:https://en.wikipedia.org/wiki/NUT_midline_carcinoma, url:https://omim.org/entry/608749, url:https://omim.org/entry/608963]
Synonyms: nuclear protein in testis midline carcinoma
Feingold syndrome
Definition: An autosomal dominant disease characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. [PMID:14518066, PMID:16906565, url:http://ghr.nlm.nih.gov/condition/feingold-syndrome, url:https://en.wikipedia.org/wiki/Feingold_syndrome]
Synonyms: ODED syndrome
fibrochondrogenesis
gingival fibromatosis
Definition: A gingival overgrowth characterized by benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa. [PMID:11868160, PMID:17385395]
Synonyms: hereditary gingival hyperplasia
humeroradial synostosis
Synonyms: humero-radial fusion RELATED []
Holt-Oram syndrome
Definition: An autosomal dominant disease characterized by congenital anomalies located_in heart and located_in upper limb. [PMID:12223419, PMID:12436037, url:http://ghr.nlm.nih.gov/condition/holt-oram-syndrome, url:https://en.wikipedia.org/wiki/Holt-Oram_syndrome]
Synonyms: heart-hand syndrome
Miller-Dieker lissencephaly syndrome
Definition: A syndrome characterized by classical lissencephaly and distinct facial features. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients. [PMID:21239872, PMID:9473821, url:http://ghr.nlm.nih.gov/condition/miller-dieker-syndrome, url:https://en.wikipedia.org/wiki/Miller-Dieker_syndrome]
Synonyms: Miller-Dieker syndrome
salt and pepper syndrome
Definition: An autosomal recessive disease characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation. [PMID:24026681]
Synonyms: salt-and-pepper syndrome
fetal valproate syndrome
Definition: A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction. [PMID:17090909, PMID:25400349]
Synonyms: fetal valproic acid syndrome
Kindler syndrome
Definition: A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling. [PMID:12668616, url:https://en.wikipedia.org/wiki/Kindler_syndrome]
Synonyms: poikiloderma of Kindler
Kabuki syndrome
Definition: A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. [PMID:25281733, PMID:25972376, PMID:26512256, url:http://ghr.nlm.nih.gov/condition/kabuki-syndrome, url:https://en.wikipedia.org/wiki/Kabuki_syndrome]
Synonyms: Niikawa-Kuroki syndrome
Chuvash polycythemia
Synonyms: Chuvash type polycythemia
childhood onset epileptic encephalopathy
Definition: An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability. [PMID:23708187, PMID:24207121, url:http://omim.org/entry/615369]
Synonyms: EEOC
Perlman syndrome
Definition: A syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome. [PMID:18780370, PMID:22306653, url:https://en.wikipedia.org/wiki/Perlman_syndrome]
Synonyms: renal hamartomas, nephroblastomatosis and fetal gigantism
Zika fever
Definition: A viral infectious disease that has_material_basis in Zika virus, which is transmitted_by Aedes aegypti mosquitoes.
Shwachman-Diamond syndrome
Definition: A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. [PMID:18356737, PMID:22201042, url:http://ghr.nlm.nih.gov/condition/shwachman-diamond-syndrome, url:https://en.wikipedia.org/wiki/Shwachman-Diamond_syndrome]
Synonyms: Shwachman-Bodian-Diamond syndrome
left ventricular noncompaction
Definition: An intrinsic cardiomyopathy characterized by distinctive (spongy) morphological appearance of the LV myocardium. [PMID:16567565]
Synonyms: left ventricular hypertrabeculation
Goldberg-Shprintzen syndrome
Definition: A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease (HSCR). It is caused by homozygous mutation in the KIAA1279 gene on chromosome 10q21.1. [PMID:15883926, PMID:23427148, url:https://en.wikipedia.org/wiki/Goldberg-Shprintzen_syndrome]
Synonyms: Goldberg-Shprintzen megacolon syndrome
oculoauricular syndrome
Definition: A syndrome characterized by microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy and a particular cleft ear lobule. [PMID:18423520, PMID:25574057]
MEDNIK syndrome
Definition: A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22.  [PMID:23423674, PMID:24754424]
Synonyms: mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia
EAST syndrome
Definition: A syndrome characterize by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance. It is caused by homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23. [PMID:19289823, PMID:19420365, PMID:23471908]
Synonyms: SeSAME syndrome
Mowat-Wilson syndrome
Definition: A syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease, genitourinary anomalies (in particular hypospadias in males), congenital heart defects, agenesis of the corpus callosum and eye anomalies. It is caused by de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22. [PMID:17958891, PMID:23466526]
Synonyms: microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease
Perry syndrome
Definition: A syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss; caused by heterozygous mutation in the DCTN1 gene on chromosome 2p13.. The mean age at onset is 48 years; the mean disease duration is five years. Parkinsonism and psychiatric changes (depression, apathy, character changes, and withdrawal) tend to occur early; severe weight loss and hypoventilation manifest later.
Synonyms: parkinsonism with alveolar hypoventilation and mental depression
Pitt-Hopkins syndrome
Definition: A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial features. It is caused by heterozygous de novo mutations in the TCF4 gene in chromosome 18q21. [PMID:17436255, PMID:26621827, PMID:728011, url:http://ghr.nlm.nih.gov/condition/pitt-hopkins-syndrome, url:https://en.wikipedia.org/wiki/Pitt-Hopkins_syndrome]
Schimke immuno-osseous dysplasia
Definition: A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules and an unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It is caused by mutations in the SMARCAL1 gene. [ISBN:0124058604, PMID:10653321, url:http://ghr.nlm.nih.gov/condition/schimke-immuno-osseous-dysplasia, url:http://www.ncbi.nlm.nih.gov/books/NBK1376/]
Synonyms: spondyloepiphyseal dysplasia - nephrotic syndrome
SPOAN syndrome
Definition: A neurodegenerative disease characterized by spastic paraplegia, axonal neuropathy, dysarthria, acoustic startle, and congenital optical atrophy. It is caused by homozygous mutation in the KLC2 gene on chromosome 11q13.2. [PMID:15852396, PMID:26385635]
Synonyms: spastic paraplegia, optic atropy, and neuropathy syndrome
chicken egg allergy
Definition: An egg allergy triggered by Gallus gallus eggs. []
Synonyms: Gallus gallus egg allergy
shellfish allergy
Definition: A food allergy triggered by Crustacea or Mollusca. []
respiratory allergy
Definition: A hypersensitivity reaction type I disease located in the respiratory tract. []
Synonyms: airway allergy
pollen allergy
Definition: A respiratory allergy triggered by pollen. []
Timothy grass allergy
Definition: A pollen allergy triggered by Phleum pratense pollen. []
autoimmune neuropathy
Definition: An autoimmune disease of centreal nervous system caused by an autoimmune response. []
drug allergy
Definition: A hypersensitivity reaction type I disease triggered by a drug. []
metal allergy
Definition: A hypersensitivity reaction type I disease triggered by a metal. []
gastrointestinal allergy
Definition: A hypersensitivity reaction type I disease located in the gastrointestinal tract. []
fruit allergy
Definition: A food allergy triggered by a plant fruit product. []
apple allergy
Definition: A fruit allergy triggered by Malus domestica plant fruit food product. []
Synonyms: Malus domestica fruit allergy
apricot allergy
Definition: A fruit allergy triggered by Prunus armeniaca plant fruit food product. []
Synonyms: Prunus armeniaca fruit allergy
cherry allergy
Definition: A fruit allergy triggered by Prunus avium plant fruit food product. []
Synonyms: Prunus avium fruit allergy
Indian plum allergy
Definition: A fruit allergy triggered by Ziziphus mauritiana plant fruit food product. []
Synonyms: Ziziphus mauritiana fruit allergy
orange allery
Definition: A fruit allergy triggered by Citrus sinensis plant fruit food product. []
Synonyms: Citrus sinensis fruit allergy
melon allergy
Definition: A fruit allergy triggered by Cucumis melo plant fruit food product. []
Synonyms: Cucumis melo fruit allergy
peach allergy
Definition: A fruit allergy triggered by Prunus persica plant fruit food product. []
Synonyms: Prunus persica fruit allergy
plum allergy
Definition: A fruit allergy triggered by Prunus domestica plant fruit food product. []
Synonyms: Prunus domestica fruit allergy
tomato allergy
Definition: A fruit allergy triggered by Solanum lycopersicum plant fruit food product. []
Synonyms: Solanum lycopersicum fruit allergy
fish allergy
Definition: A food allergy triggered by fish. []
Atlantic cod allergy
Definition: A fish allergy triggered by Gadus morhua. []
Synonyms: Gadus morhua fish allergy
Atlantic salmon allergy
Definition: A fish allergy triggered by Salmo salar. []
Synonyms: Salmo salar fish allergy
carp allergy
Definition: A fish allergy triggered by Cyprinus carpio. []
Synonyms: Cyprinus carpio fish allergy
zebrafish allergy
Definition: A fish allergy triggered by Danio rerio. []
Synonyms: Danio rerio allergy
rainbow trout allergy
Definition: A fish allergy triggered by Oncorhynchus mykiss. []
Synonyms: Oncorhynchus mykiss allergy
beta-lactam allergy
Definition: A drug allergy triggered by a beta-lactam (β-lactam). []
penicillin allergy
Definition: A beta-lactam allergy triggered by penicillin. []
cow milk allergy
Definition: A milk allergy triggered by Bos taurus milk. []
Synonyms: Bos taurus milk allergy
goat milk allergy
Definition: A milk allergy triggered by Capra hircus milk. []
Synonyms: Capra hircus milk allergy
mollusc allergy
Definition: A shellfish allergy triggered by Mollusca. []
crustacean allergy
Definition: A shellfish allergy triggered by Crustacea. []
brown shrimp allergy
Definition: A crustacean allergy triggered by Farfantepenaeus aztecus. []
Synonyms: Farfantepenaeus aztecus allergy
green mud crab allergy
Definition: A crustacean allergy triggered by Scylla paramamosain. []
Synonyms: Scylla paramamosain allergy
Indian prawn allergy
Definition: A crustacean allergy triggered by Fenneropenaeus indicus. []
Synonyms: Fenneropenaeus indicus allergy
tiger prawn allergy
Definition: A crustacean allergy triggered by Penaeus monodon. []
Synonyms: Penaeus monodon allergy
white shrimp allergy
Definition: A crustacean allergy triggered by Litopenaeus vannamei. []
Synonyms: Litopenaeus vannamei allergy
snail allergy
Definition: A mollusc allergy triggered by snails. []
horned turban snail allergy
Definition: A snail allergy triggered by Turbo cornutus. []
Synonyms: Turbo cornutus allergy
latex allergy
Definition: A hypersensitivity reaction type I disease triggered by latex. []
hepatoid adenocarcinoma
Definition: An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver. [ISBN:9789283224327]
Warsaw breakage syndrome
Definition: A syndrome mainly characterized by severe growth retardation and microcephaly. It is a new form of cohesinopathy showing defects in sister chromatid cohesion and hypersensitivity to chemicals that induce replication stress, thus combining distinct cytogenetic features seen in Roberts syndrome and Fanconi anemia, respectively. It is caused by homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11. [PMID:20137776, PMID:21490908, PMID:23033317, PMID:26089203]
Synonyms: WABS
mitochondrial complex I deficiency
Definition: A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can be caused by mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded.  [ORDO:2609, url:http://www.omim.org/entry/252010]
Synonyms: isolated NADH-ubiquinone reductase deficiency
mitochondrial complex II deficiency
Definition: A mitochondrial metabolism disease characerized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It s caused by homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23. [PMID:23322652]
Synonyms: isolated succinate-ubiquinone reductase deficiency
purpura fulminans
Definition: A purpura characterized blood spots, bruising and discolouration of the skin resulting from coagulation in small blood vessels within the skin and rapidly leads to skin necrosis and disseminated intravascular coagulation. It is often fatal. [ORDO:49566, PMID:26955583, url:https://en.wikipedia.org/wiki/Purpura_fulminans]
Synonyms: purpura gangrenosa
neoplastic disease
Definition: A disease of cellular proliferation that results in an abnormal mass of tissue.
blastoma
Definition: A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from precursor cells called blast cells.
myeloma
Definition: A bone marrow cancer that affects plasma cells in which abnormal plasma cells multiply uncontrollably in the bone marrow and occasionally in other parts of the body.
muscular disease
Definition: A musculoskeletal system disease that affects the muscles.
bone disease
Definition: A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function.
Synonyms: skeletal disease RELATED []
autosomal dominant disease
autosomal recessive disease
bone remodeling disease
Definition: A bone disease that results_in formation or resorption abnormalities located_in bone.
bone development disease
Definition: A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage.
bone deterioration disease
Definition: A bone structure disease that results_in change or damage of structure located_in bone.
ischemic bone disease
Definition: A bone disease that results_in an interruption of blood supply located_in bone.
X-linked dominant disease
bone structure disease
Definition: A bone disease that has_material_basis_in an abnormality in the location or function of the skeletal structure.
bone resorption disease
Definition: A bone remodeling disease that results in an abnormal decrease of bone density or mass.
X-linked recessive disease
mitochondrial disease
chromosomal disease
Definition: A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes.
physical disorder
Definition: A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.
spina bifida
olivopontocerebellar atrophy V
Synonyms: OPCA with dementia and extrapyramidal signs
dysbaric osteonecrosis
Definition: An ischemic bone disease the has_material_basis_in nitrogen embolization located_in bone.
Synonyms: DON
metaphyseal dysplasia
Definition: An osteochondrodysplasia that results_in thinning and the tendency to fracture located_in bone.
Synonyms: Pyle-Cohn syndrome
Jansen's metaphyseal chondrodysplasia
Definition: A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism.
Synonyms: Murk Jansen Type Metaphyseal Chondrodysplasia
Schmid metaphyseal chondrodysplasia
Definition: A metaphyseal dysplasia that results_in dwarfism and bowed legs.
Synonyms: Schmid type metaphyseal dysplasia
McKusick type metaphyseal dysplasia
Definition: A metaphyseal dysplasia that results_in short-limbed dwarfism and fine sparse hair.
Synonyms: Cartilage-Hair Hypoplasia
Shwachman-Diamond type metaphyseal dysplasia
Pyles dysplasia
spondyloepiphyseal dysplasia congenita
otospondylomegaepiphyseal dysplasia
Definition: An osteochondrodysplasia that results from mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss.
Synonyms: NANCE-SWEENEY CHONDRODYSPLASIA
spondyloepimetaphyseal dysplasia
Definition: An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis.
spondyloepimetaphyseal dysplasia, Strudwick type
Definition: A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).
autosomal recessive spinocerebellar ataxia 16
spondyloepimetaphyseal dysplasia, Missouri type
Definition: A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the MMP13 gene which results_in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities.
fibrous dysplasia
Definition: A bone remodeling disease that results_in the destruction of normal bone and replacing it with fibrous bone tissue.
craniodiaphyseal dysplasia
Definition: An osteosclerosis that results_in increased calcium concentration located_in skull which decreases the size of cranium foramina and cervical spinal canal.
craniometaphyseal dysplasia
Definition: An osteosclerosis that has_material_basis_in mutations in the ANKH gene which results_in progressive thickening located_in skull and abnormally shaped ends of long bones in the limbs.
endosteal hyperostosis
Definition: A hyperostosis of endosteal bone.
SOST-related sclerosing bone dysplasia
Definition: A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull.
Synonyms: van Buchem disease
Worth's syndrome
Definition: A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate.
Synonyms: Worth syndrome
pycnodysostosis
Definition: An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges.
axial osteomalacia
Definition: An osteosclerosis that results_in coarsening located_in trabecular bone.
fibrogenesis imperfecta ossium
Definition: A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures.
Synonyms: Baker's disease
hypochondroplasia
Definition: An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism.
autosomal recessive spinocerebellar ataxia 18
achondrogenesis
Definition: An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disaprportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period.
hypochondrogenesis
Definition: An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. The disease has_symptom enlarged abdomen.
Kniest dysplasia
Definition: An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face.
pseudoachondroplasia
Definition: An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism.
Synonyms: SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC
trichorhinophalangeal syndrome I
Definition: A
acromesomelic dysplasia
Definition: An osteochondrodysplasia that has_material_basis_in mesomelia and acromelia, which results_in short limb Dwarfism.
acromesomelic dysplasia, Maroteaux type
Definition: An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the located_in vertebral column and shortening of middle and distal segments in the located_in limb. [pdf:http://www.orpha.net/data/patho/GB/uk-Acromesomelic%2805%29.pdf, url:http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=507, url:http://www.ncbi.nlm.nih.gov/omim/602875]
acromesomelic dysplasia, Hunter-Thompson type
Definition: An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot. [pdf:http://www.orpha.net/data/patho/GB/uk-hunter05.pdf, url:http://rarediseases.info.nih.gov/GARD/Disease.aspx?diseaseID=506, url:http://www.ncbi.nlm.nih.gov/omim/201250]
Synonyms: acromesomelic dwarfism
acromesomelic dysplasia, Grebe type
Definition: An acromesomelic dysplasia that has_material_basis_in mutation in CDMP-1 which results_in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones. [pdf:http://www.orpha.net/data/patho/Pro/en/AcromesomelicDysplasiaGrebe-FRenPro2010.pdf, url:http://rarediseases.info.nih.gov/GARD/Condition/1300/Chondrodysplasia_Grebe_type.aspx, url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2098]
Synonyms: GREBE CHONDRODYSPLASIA